rs28940893
|
|
|
0.750 |
GeneticVariation |
BEFREE |
The two common alleles, 459+1G > A and P426L, together accounted for 42% of all 50 unrelated MLD alleles investigated; I179S was observed in 6 of 50 MLD alleles (12%).
|
9096767 |
1997 |
rs28940893
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Our preliminary studies on 43 unrelated Polish patients suffering from different types of metachromatic leukodystrophy (MLD) showed that four mutations in the ARSA gene accounted for 55% of mutated alleles (c.459+1G>A, p.P426L, p.I179S and c.1204+1G>A).
|
20339381 |
2010 |
rs28940893
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Our study has confirmed that c.459+1G>A and p.P426L are the most frequently found MLD-causing mutations in Europe.
|
16140556 |
2005 |
rs28940893
|
|
|
0.750 |
GeneticVariation |
BEFREE |
In concordance with previous reports, IVS2+1G>A and P426L were the most common ARSA-MLD mutations in our cohort of MLD patients, found at frequencies of 0.05 and 0.08, respectively.
|
25965562 |
2015 |
rs28940893
|
|
|
0.750 |
GeneticVariation |
BEFREE |
The characteristic clinical differences between homozygous P426L and compound heterozygous I179S patients establish a distinct genotype-phenotype correlation in late-onset metachromatic leukodystrophy.
|
16966551 |
2006 |
rs74315457
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The two common alleles, 459+1G > A and P426L, together accounted for 42% of all 50 unrelated MLD alleles investigated; I179S was observed in 6 of 50 MLD alleles (12%).
|
9096767 |
1997 |
rs74315457
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Our preliminary studies on 43 unrelated Polish patients suffering from different types of metachromatic leukodystrophy (MLD) showed that four mutations in the ARSA gene accounted for 55% of mutated alleles (c.459+1G>A, p.P426L, p.I179S and c.1204+1G>A).
|
20339381 |
2010 |
rs74315457
|
|
|
0.740 |
GeneticVariation |
BEFREE |
It seems that I179S mutation on one allele with another mutation on the other allele reduces ASA activity, but the enzyme can still cope with a part of the substrate influx, leading to late-juvenile-onset MLD with such strikingly similar phenotypes remaining a little bit of the adult (psychiatric) type.
|
9007312 |
1996 |
rs74315457
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The characteristic clinical differences between homozygous P426L and compound heterozygous I179S patients establish a distinct genotype-phenotype correlation in late-onset metachromatic leukodystrophy.
|
16966551 |
2006 |
rs74315455
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The other allele, with a substitution of Gly-99 by Asp (allele 445A), had been identified in a Japanese adult form of MLD in a heterozygous combination.
|
8101083 |
1993 |
rs74315455
|
|
|
0.720 |
GeneticVariation |
BEFREE |
In a transient expression study, COS cells transfected with the mutant cDNA carrying 99Gly----Asp did not show an increase of ASA activity, which confirms that the mutation is a cause of adult-type MLD.
|
1673291 |
1991 |
rs199476357
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We analysed the ARSA gene in eight unrelated Italian families with different clinical variants of MLD and identified three novel mutations: two Ser406Gly, (Glu329Ter) associated with late infantile MLD and one (Leu52Pro) with juvenile MLD.
|
16678723 |
2006 |
rs199476361
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We analysed the ARSA gene in eight unrelated Italian families with different clinical variants of MLD and identified three novel mutations: two Ser406Gly, (Glu329Ter) associated with late infantile MLD and one (Leu52Pro) with juvenile MLD.
|
16678723 |
2006 |
rs199476374
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease.
|
10381328 |
1999 |
rs199476383
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The F219V substitution causes reduction in enzyme activity to an extent unexpected for an adult patient with MLD.
|
15710861 |
2005 |
rs199476384
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The mutations F247S and P136S were found in compound heterozygous with the "A" allele in two patients with juvenile onset MLD.
|
14680985 |
2003 |
rs199476385
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Here, we report on the novel missense mutations (F247S, D381E, and A46</span>9G) and the known mutations "A" allele and P136S in the ARSA gene in three unrelated Ukrainian families with MLD.
|
14680985 |
2003 |
rs199476390
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy.
|
10751093 |
2000 |
rs28940895
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G-->A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family.
|
11456299 |
2001 |
rs60504011
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Here, we report on the novel missense mutations (F247S, D381E, and A469G) and the known mutations "A" allele and P136S in the ARSA gene in three unrelated Ukrainian families with MLD.
|
14680985 |
2003 |
rs6151425
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The clinical features of the typical patient with genotype D381E/A469G (early onset with very rapid manifestation of disease) suggest the reason to distinguish an early infantile MLD variant.
|
14680985 |
2003 |
rs74315458
|
|
|
0.710 |
GeneticVariation |
BEFREE |
In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity.
|
1353340 |
1992 |
rs80338819
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The distribution of mutation D255H (frequency 19.4%) among patients with different MLD clinical presentation revealed a clear genotype-phenotype correlation paralleling that reported for mutation IVS2+1G-->A (frequency 25%).
|
10477432 |
1999 |
rs1199771724
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Homozygote for mutation c.1204 + 1G > A of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy and a rare MRI white matter lesion type.
|
16110195 |
2005 |
rs1220454918
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The significant association of age at the onset of MLD symptoms with APOE ε2/ε3/ε4 and LRP1 c.766C>T polymorphisms was shown in multivariate stepwise regression analysis, in which other factors known to affect age at onset of the disease, i.e. clinical type of MLD, family connection of the patient and sex were also analyzed.
|
23701968 |
2013 |